A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5960154



Internal ID22735162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46443394..46443394hg38UCSC Ensembl
chr1:46909066..46909066hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382592
Samples
Known GenesLOC729041
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5960154
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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